A map of human genome variation from population-scale sequencing. Nature 467, 1061–1073 (2010). Skaletsky, H. et al. The male-specific region of the human Y chromosome: a mosaic of discrete sequence classes. Nature 423, 825–837 (2003). Article CAS PubMed Google Scholar Yan, S. et...
To systematically characterize the sequence determinants of human gene regulatory element activity, we developed a set of four MPRA libraries that cover more than 100 times the sequence space of the human genome (Fig.1aandMethods). The libraries are based on the self-transcribing active regulatory ...
Our portfolio of sequencers drive improvements in rare disease research, inspire personalized approaches to medicine, and enable the promise of genomics to better human health. Explore products Talk with an expert If you have a question, need to check the status of an order, or are interested ...
Wenger, Aaron M., et al. "Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome." Nature biotechnology 37.10 (2019): 1155-1162. Sequencing Data The annotated table of sequence data can be downloadedhere. ...
The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the...
Easy access to human reference genome sequences. This package calls open(file).seek(range) on FASTA files of ASCII characters to provide ranges of sequence strings. It is exactly as fast as your disk, for better or worse. Requirements ...
Here, we have presented the largest collection of bladder-specific bacterial isolates paired with whole-genome sequences, providing a valuable resource for hypothesis-driven and data-driven bladder microbiome research. This extensive, genome-sequenced culture collection represents more than 70% of bacteria...
Genome assembly Genome Reference Consortium https://www.ncbi.nlm.nih.gov/grc/human(hg19/GrChr37.p13) Gene annotation Harrow et al., 2012 https://www.gencodegenes.org/human/release_19.html Cell Ranger 10x Genomics https://support.10xgenomics.com/single-cell-gene-expression/software/downloads/...
The sequence properties of microsatellites have also been studied in a variety of organisms. Database analyses of genomic sequences have investigated the genome-wide frequency and distribution of microsatellites; such analyses find that the frequencies of microsatellites with different repeat motifs, as ...
With the ability to generate reads tens to thousands of kilobases in length with an accuracy approaching that of short-read sequencing technologies, these platforms have proven their ability to resolve some of the most challenging regions of the human genome, detect previously inaccessible structural ...